Canonical Allele Identifier: CA493797286

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248808A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154951A>T , CM000678.2:g.16154951A>T	GRCh38
NC_000016.9:g.16248808A>T , CM000678.1:g.16248808A>T	GRCh37
NC_000016.8:g.16156309A>T	NCBI36
NG_007558.2:g.73521T>A
NG_007558.3:g.73667T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.826T>A
ENST00000622290.5:c.*135T>A	ENSP00000483331.2:n.*135T>A
ENST00000205557.12:c.3963T>A MANE Select	ENSP00000205557.7:p.Gly1321=
ENST00000640696.1:c.777T>A	ENSP00000492197.1:p.Gly259=
ENST00000205557.11:c.3963T>A	ENSP00000205557.7:p.Gly1321=
ENST00000456970.6:c.3588T>A	ENSP00000405002.2:n.3588T>A
ENST00000576204.5:n.826T>A
ENST00000622290.4:c.*1172T>A	ENSP00000483331.1:n.*1172T>A
NM_001171.5:c.3963T>A	NP_001162.4:p.Gly1321=
XM_011522479.1:c.3930T>A	XP_011520781.1:p.Gly1310=
XM_011522480.1:c.3621T>A	XP_011520782.1:p.Gly1207=
XM_011522481.1:c.3621T>A	XP_011520783.1:p.Gly1207=
XR_932836.1:n.4261T>A
XR_932837.1:n.3999T>A
XR_932838.1:n.4062T>A
XR_933134.1:n.539-4830A>T
NM_001351800.1:c.3621T>A	NP_001338729.1:p.Gly1207=
NR_147784.1:n.3625T>A
XM_011522479.2:c.3930T>A	XP_011520781.1:p.Gly1310=
XM_011522481.3:c.3621T>A	XP_011520783.1:p.Gly1207=
XM_017023212.1:c.3795T>A	XP_016878701.1:p.Gly1265=
XM_024450261.1:c.3999T>A	XP_024306029.1:p.Gly1333=
XR_932837.3:n.3944T>A
NM_001171.6:c.3963T>A MANE Select	NP_001162.5:p.Gly1321=